Henrique Soares

Gastroschisis: preterm or term delivery?

AIM The main objective of this study was to evaluate the association between prematurity and the time to achieve full enteral feeding in newborns with gastroschisis. The second objective was to analyze the associations between length of hospital stay and time to achieve full enteral feeding with mode of delivery, birth weight and surgical procedure. METHODS The medical records of newborns with gastroschisis treated between 1997 and 2007 were reviewed. Two groups were considered: those delivered before 37 weeks (group A) and those delivered after 37 weeks (group B). The variables of gestational age, mode of delivery, birth weight, time to achieve full enteral feeding, length of hospital stay and surgical approach were analyzed and compared between groups. RESULTS Forty-one patients were studied. In Group A, there were 14 patients with a mean birth weight (BW) of 2300 g (range=1680–3000) and a mean gestational age (GA) of 36 weeks (range=34–36). In group B, there were 24 patients with a mean BW of 2700 g (range=1500–3550) and a mean GA of 38 weeks (range=37–39). The mean time to achieve full enteral feeding was 30.1±6.7 days in group A and 17.0±2.5 days in group B (p=0.09) with an OR of 0.82 and a 95% CI of 0.20–3.23 after adjustment for sepsis and BW. No statistical difference was found between low BW (<2500 g), mode of delivery and number of days to achieve full enteral feeding (p=0.34 and p=0.13, respectively). Patients with BW over 2500 g had fewer days in the hospital (22.9±3.1 vs. 35.7±5.7 days; p=0.06). CONCLUSION The results of this study do not support the idea of anticipating the delivery of fetuses with gastroschisis in order to achieve full enteral feeding earlier.

Severe pertussis in newborns and young vulnerable infants.

A retrospective chart review of 18 nonvaccinated newborns and infants admitted to 6 intensive care units in the north of Portugal between 2007 and 2012 revealed a high rate of admissions in 2012 along with significant rates of severe pulmonary hypertension and mortality. Hyperleukocytosis was significantly associated with a more severe clinical picture and mortality.

Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report

CONTEXT 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turners syndrome phenotype, but she was referred to our hospital because she presented reduced growth rate, abnormal facies and a melanotic nevus. After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and blood showed significant differences in the 45,X cell line between these two tissues. The presence of the sex-determining region Y (SRY) gene did not determine male differentiation, which meant in the present case that the predominance of the X cell line in the gonadal tissue was probably due to the determining factor for female sexual differentiation.

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, fatal, developmental lung disorder, which usually presents as persistent pulmonary hypertension of the newborn (PPHN) unresponsive to treatment. The authors present their own experience with three cases admitted during the last 15 years.

Red blood cells transfusions in very low birth weight neonates

Introduction: Very low birth weight preterm infants are associated with a greater risk of morbidity and mortality and are more susceptible to therapy with red blood cells transfusions. The aim of this study is to analyse the frequency and factors associated with red blood cells transfusions in very low birth weight infants. Material and methods: This retrospective study included neonates with very low birth weight admitted between November 1, 2011 and October 31, 2015. Demographic, perinatal and clinical data during hospitalization were obtained through medical records. Statistical tests were used to compare neonates with and without need for red blood cells transfusion and multivariate regression analysis to find predictor factors. Results: Seventy-nine patients were studied, median birth weight of 1,190 grams and mean gestational age of 29 ± 2 weeks. Forty-nine (62%) received transfusion support with red blood cells. Higher need for red blood cells transfusions was significantly associated with low birth weight (OR = 0.99, 95% CI 0.990-0.999) and total millilitres of phlebotomy losses (OR = 1.17, 95% CI 1.07-1.28). Birth weight (B = -0.01, 95% CI -0.008 to -0.003), hemoglobin at admission (B = -0.33, 95% CI -0.53 to -0.13) and sepsis (B = 1.85, 95% CI 0.72-2.98) were predictive factors for the number of red blood cells transfusions. Regarding the treatment with erythropoietin, there were no differences for all outcomes. Conclusions: Phlebotomy losses are one of the major factors for the need of transfusion in preterm infants, and therefore sampling should be minimized to the maximum.

Congenital cytomegalovirus infection in an extremely preterm newborn exposed to chemotherapy in utero

Cytomegalovirus (CMV) infection is the most frequent congenital infection in developed countries and the main cause of non-hereditary sensorineural deafness. We report the case of a 27-week-old newborn (NB) with symptomatic congenital CMV infection. The pregnancy was monitored and CMV seroconversion was detected in the first trimester maternal serum screening. At 10 weeks of gestation the mother was diagnosed with breast carcinoma, submitted to a tumorectomy at 17 weeks and started chemotherapy by the 21 st week. CMV fetal infection was confirmed by positive DNA detection in amniotic fluid at 21 weeks of gestation. The mother received valaciclovir therapy from the 22nd week of pregnancy until delivery. The NB was delivered by cesarean section at 27 weeks with a birth weight of 950 g. In the first day of life, the NB suffered severe thrombocytopenia and congenital CMV infection was confirmed by positive PCR for CMV DNA in both urine and blood samples. The NB completed six weeks of ganciclovir treatment with progressive clinical and analytical recovery. Auditory evoked potentials were absent in the left ear. On the 84 th day of life, the infant, due to clinical and laboratory assessments deterioration, started valganciclovir, completing a total of 6 months of treatment. Currently, at 36 months, the infant presents an appropriate development for the corrected age and has no indication for cochlear implantation. The authors intend to point out the difficulty of treating this infection associated with a high morbimortality, as there is no definitive evidence about the potential benefit of fetal infection treatment during pregnancy, the evidences regarding the effectiveness of antiviral therapy in NB refer to a restricted group of NBs, and this therapy may be associated with important side effects. In this case, the existence of other factors that increase the NB vulnerability and potential sequelae make decisions even more difficult.

Respiratory Care for the Ventilated Neonate

Invasive ventilation is often necessary for the treatment of newborn infants with respiratory insufficiency. The neonatal patient has unique physiological characteristics such as small airway caliber, few collateral airways, compliant chest wall, poor airway stability, and low functional residual capacity. Pathologies affecting the newborns lung are also different from many others observed later in life. Several different ventilation modes and strategies are available to optimize mechanical ventilation and to prevent ventilator-induced lung injury. Important aspects to be considered in ventilating neonates include the use of correct sized endotracheal tube to minimize airway resistance and work of breathing, positioning of the patient, the nursing care, respiratory kinesiotherapy, sedation and analgesia, and infection prevention, namely, the ventilator-associated pneumonia and nosocomial infection, as well as prevention and treatment of complications such as air leaks and pulmonary hemorrhage. Aspects of ventilation in patients under ECMO (extracorporeal membrane oxygenation) and in palliative care are of increasing interest nowadays. Online pulmonary mechanics and function testing as well as capnography are becoming more commonly used. Echocardiography is now a routine in most neonatal units. Near infrared spectroscopy (NIRS) is an attractive tool potentially helping in preventing intraventricular hemorrhage and periventricular leukomalacia. Lung ultrasound is an emerging tool of diagnosis and can be of added value in helping monitoring the ventilated neonate. The aim of this scientific literature review is to address relevant aspects concerning the respiratory care and monitoring of the invasively ventilated newborn in order to help physicians to optimize the efficacy of care.

Neonatal dilated cardiomyopathy

Cardiomyopathies are rare diseases of the heart muscle, of multiple causes, that manifest with various structural and functional phenotypes but are invariably associated with cardiac dysfunction. Dilated cardiomyopathy is the commonest cardiomyopathy in children, and the majority present before one year of age. Its etiology may be acquired or genetic. Myocarditis is an important cause and is responsible for the majority of acquired cases. Inherited (familial) forms of dilated cardiomyopathy may occur in 25-50% of patients. Echocardiographic and tissue Doppler studies are the basis for diagnosis of dilated cardiomyopathy in most patients. Marked dilatation of the left ventricle with global hypokinesis is the hallmark of the disease. This review will cover the classification, epidemiology and management of newborns with dilated cardiomyopathy. In particular, a comprehensive and up-to-date review of the genetic study of dilated cardiomyopathy and of detailed echocardiographic assessment of these patients will be presented.

Prediction of cardiovascular risk in preterm neonates through urinary proteomics: An exploratory study

HighlightsUrine proteomics allows the identification of the pathways modulated in neonates.Up‐regulated pathways in preterm include immunity, metabolism and oxidative stress.Some of these pathways seem to be modulated by the nutritional support.AGT and RBP4 might be related to the development of cardiovascular diseases. Abstract Preterm birth has been associated with an increased risk of cardiovascular diseases (CVD) in adulthood. The goal of our study was to give new molecular insights on the relationship between prematurity and CVD risk and to identify putative biomarkers that would facilitate the development of effective screening and therapeutic strategies. In this sense, mass spectrometry (MS)‐based proteomics was applied to the characterization of urine protein profile. GeLC–MS/MS analysis of urine (desalted and concentrated with a 10‐kDa filter) followed by bioinformatics was applied for the characterization of preterm and full‐term neonates. Urine proteome profiling retrieved 434 unique proteins, from which 126 were common to both groups, 37 were unique to preterm and 58 to full‐term neonates. Protein‐protein interaction analysis for unique proteins and common ones present in significant distinct levels retrieved immune system, metabolism, defense systems and tissue remodeling as the most representative clusters in preterm neonates. Metabolic adaptation along with the up‐regulation of heart growth (identified by angiotensinogen and retinol‐binding protein 4) may account for an increased CVD risk in preterm neonates. These proteins may have predictive value of CVD in adulthood of this specific group of neonates. The follow‐up of urinary proteome dynamics of preterm and full‐term neonates will be crucial for the validation of this hypothesis.

Perinatal hypoxic-ischemic encephalopathy: severity determinants and outcomes

Perinatal hypoxic-ischemic encephalopathy (HIE) after perinatal asphyxia is one of the most critical pathologic conditions in neonatal medicine due to the potential for neurological sequelae in later life. The aim of our study is to identify the factors that are associated with a higher degree of severity in HIE and evaluate the outcomes. We performed a retrospective study of all newborns with HIE treated at our neonatal intensive care unit (NICU) from January 2010 to December 2013. Data collected include information about prenatal period, peripartum period, demographic characteristics, admission and evolution during NICU stay and outcomes (assessed in three different times: at discharge, at 6-9 months and 18 months). Forty seven newborns were enrolled in our study, 11 (23.4%) with mild HIE, 21 (44.7%) with moderate HIE and 15 (31.9%) with severe HIE. Prenatal, perinatal and demographic data showed no statistically significant differences between groups. Statistically significant differences were found in values of Thompson score (p < 0.0001), abnormal aEEG/EEG at admission (p = 0.025) and at 48 hours (p = 0.018), need of mechanical ventilation (p = 0.004), acute renal failure (p = 0.002) and length of stay (p = 0.038) with high rates in the moderate and severe HIE groups. Regarding the outcomes, statistically significant differences were found in the prevalence of death (p = 0.010); need of antiepileptic drugs at discharge (p = 0.001); motor deficits requiring physiotherapy (p = 0.046), abnormal deep tendon reflex (p = 0.006) and need of antiepileptic drugs (p = 0.001) at 6-9 months follow-up; and cerebral palsy with cognitive impairment at 18 months (p = 0.041) with high rates in the severe HIE group. These results suggest that Thompson score, abnormal aEEG/EEG at admission and at 48 hours, mechanical ventilation, acute renal failure and length of stay are associated with more severe HIE. We also concluded that more severe HIE reflects worse outcomes whereas mild HIE is associated with normal outcome in the majority of patients at 18 months.